ARID1B, AT-rich interaction domain 1B, 57492

N. diseases: 270; N. variants: 90
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554226131
rs1554226131 		1.000 6 157148899 frameshift variant -/A delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017
dbSNP: rs1554226131
rs1554226131 		1.000 6 157148899 frameshift variant -/A delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 20 1984 2017
dbSNP: rs1554231814
rs1554231814 		6 157184262 frameshift variant C/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 20 1984 2017
dbSNP: rs1554234424
rs1554234424 		1.000 6 157196295 stop gained T/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 20 1984 2017
dbSNP: rs1554234424
rs1554234424 		1.000 6 157196295 stop gained T/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017
dbSNP: rs1554235792
rs1554235792 		1.000 6 157201064 stop gained C/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017
dbSNP: rs1554236054
rs1554236054 		1.000 6 157201481 frameshift variant -/G delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 20 1984 2017
dbSNP: rs1554236054
rs1554236054 		1.000 6 157201481 frameshift variant -/G delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 20 1984 2017
dbSNP: rs1554236054
rs1554236054 		1.000 6 157201481 frameshift variant -/G delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017
dbSNP: rs1554237050
rs1554237050 		6 157206240 frameshift variant A/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 20 1984 2017
dbSNP: rs1554237848
rs1554237848 		1.000 6 157207180 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017
dbSNP: rs1554237848
rs1554237848 		1.000 6 157207180 stop gained G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 20 1984 2017
dbSNP: rs1554247637
rs1554247637 		1.000 6 156778646 frameshift variant TGCGAGCGGCGGCC/G delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 20 1984 2017
dbSNP: rs1554247637
rs1554247637 		1.000 6 156778646 frameshift variant TGCGAGCGGCGGCC/G delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017
dbSNP: rs758570139
rs758570139 		1.000 6 157181016 stop gained C/G;T snv 2.8E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1984 2017
dbSNP: rs758570139
rs758570139 		1.000 6 157181016 stop gained C/G;T snv 2.8E-05
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 20 1984 2017
dbSNP: rs112140754
rs112140754 		6 156924099 intron variant T/C snv 3.6E-03
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs11967485
rs11967485 		6 156807123 intron variant G/A snv 0.15
CUI: C0201925
Disease: Calcium measurement
Calcium measurement 		0.800 1.000 1 2013 2013
dbSNP: rs11967485
rs11967485 		6 156807123 intron variant G/A snv 0.15
CUI: C0428302
Disease: Calcium level result
Calcium level result 		0.700 1.000 1 2013 2013
dbSNP: rs12204046
rs12204046 		6 156891736 intron variant T/C;G snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1344215061
rs1344215061 		6 157196226 missense variant C/G snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs17322427
rs17322427 		6 156967408 intron variant A/G snv 0.27
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs287879
rs287879 		6 156822205 intron variant A/G snv 0.25
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs375927292
rs375927292 		6 156891737 intron variant C/-;CC;CCC;CCCC delins
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs797044859
rs797044859 		6 157200765 frameshift variant AT/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2015 2015